HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		1.000 CausalMutation disease CLINVAR
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C4479491
Disease: LOPES-MACIEL-RODAN SYNDROME
LOPES-MACIEL-RODAN SYNDROME 		0.600 CausalMutation disease CLINVAR
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.440 Biomarker group HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.420 Biomarker disease HPO
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.170 Biomarker phenotype HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.160 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.130 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 Biomarker phenotype HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.110 Biomarker disease HPO
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO